[ensembl-dev] why the frameshift variants are represented with 'X' as the aminoacid change?
David Tamborero
david.tamborero at gmail.com
Wed Dec 5 11:04:42 GMT 2018
Hi there,
I m realizing that when inputing a frameshift genomic variant, VEP
annotates the corresponding protein change using 'X' as the alt aminoacid
(is not 'X' normally refering to the stop codon?)
e.g. 8_90967511_CT/C results in NBN p.466 R/X, but I will expect to have
something like R466Gfs*18
thanks!
d
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